"Haemochromatosis: Canada's most common genetic disorder," reads a prominent search-engine result.

But what, you may ask, is the relevance of this to you?

If you trawl through Cyberspace, you'll soon notice that the Canadian Haemochromatosis Society isn't alone in recognising haemochromatosis – or iron overload – as the most common genetic disorder. Worldwide, experts now realise that genetic haemochromatosis is far more common than previously thought. And they're concerned, because the health effects can be devastating.

Although genetic haemochromatosis has been recognised for more than a century, research into this field has accelerated during the past 20 years. At the forefront of research into the specific impact on South Africans is Dr Monique Zaahl from the Department of Genetics at the University of Stellenbosch.

During the past few years Dr Zaahl investigated the role of gene mutations involved in iron homeostasis, since it's known that a faulty iron-regulating system in the body is associated not only with genetic haemochromatosis, but also with serious illnesses like throat cancer, multiple sclerosis (MS) and porphyria cutanea tarda*.

Results of her research have led to a better understanding of the mechanisms involved in iron metabolism and the above-mentioned diseases. And thanks to her, specific genetic tests for the Indian and African population groups have now been developed.

Haemochromatosis: early detection possible
Hereditary, or genetic, haemochromatosis is characterised by excessive absorption and storage of iron. Left untreated, it eventually leads to damage and impairment of many of the organs, including the liver, pancreas and endocrine glands.

For decades, it was believed that the disorder was mainly restric ... Read more